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KRT9基因突变所致表皮松解性掌跖角化病1例

XU Wencong,ZHU Lei,SU Hang,ZHANG Jiao,CHEN Wenjing,CHEN Yongfeng

Journal of Diagnosis and Therapy on Dermato-venereology（2022）

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Abstract
报告KRT9基因突变所致表皮松解性掌跖角化病1例.患者男,中国籍,32岁,手足角化性斑块30余年.皮肤科检查:双侧掌跖面可见对称性弥漫性角化斑块,皮肤粗糙增厚,呈灰黄色.皮损组织病理:表皮明显角化过度,颗粒层棘层增厚,皮突延长,颗粒细胞变性,考虑掌跖角化病.基因全外显子组测序结果:KRT9基因外显子检测出c.487C＞T(p.Arg163Trp)点突变.诊断:表皮松解性掌跖角化病.
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